ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)

gnomAD frequency: 0.00007  dbSNP: rs749668335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689067 SCV000816705 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1176 of the ELP1 protein (p.Ser1176Asn). This variant is present in population databases (rs749668335, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 568643). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002462024 SCV002755467 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The p.S1176N variant (also known as c.3527G>A), located in coding exon 32 of the IKBKAP gene, results from a G to A substitution at nucleotide position 3527. The serine at codon 1176 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485626 SCV002777265 uncertain significance Medulloblastoma; Familial dysautonomia 2021-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271564 SCV001452822 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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